Objective: to present a case of concurrent Wilson disease and Parkinson disease.

Background: Wilson disease (WD) is a rare autosomal recessive disease that typically manifests in children and young adults, caused by a defective ATPase 7B enzyme leading to impaired secretion of copper. On the other hand, Parkinson disease (PD) is one of the more common idiopathic progressive neurodegenerative diseases typically affecting patients over the age of 60, that results from a loss or degeneration of dopaminergic neurons and the development of Lewy Bodies. Despite their different pathophysiological mechanisms, both entities can have similar neurological manifestations, such as parkinsonism.

Method: Case report

Results: A 68-year-old male who developed the signs and symptoms of parkinsonism at the age of 66. His workup included a Ioflupane I¹²³ SPECT imaging (DaTscan) and a Syn-One biopsy, which were both consistent with a diagnosis of PD. He also developed peripheral neuropathy at the age of 64. Workup for neuropathy revealed a decreased concentration of both serum copper and ceruloplasmin. Liver transaminases and liver ultrasound were normal. A liver biopsy showed high dry copper weight. Genome sequencing revealed two variants in ATP7B, with one being a pathogenic variant (c.3243+1G>A), and the other of uncertain significance (c.3242+5G>A). Subsequent ATP7B peptide levels were low to undetectable, supporting a diagnosis of WD. He was treated with dietary copper restriction, oral zinc and chelation therapy. For his PD, he was started on levodopa therapy, with notable improvement of his parkinsonian symptoms.

Conclusion: This case describes concurrent late-onset atypical WD and levodopa-responsive PD. His late presentation of WD, equivocal biochemical markers and absence of liver injury made this case diagnostically challenging. Treatment of WD has thus far not halted progression of parkinsonism, suggesting that his parkinsonism is indeed idiopathic and not only a manifestation of WD. We also illustrate the utility of ATP7B peptide testing for confirmation of WD diagnoses in the setting of equivocal biochemical findings and/or presence of variants of uncertain significance in ATP7B. Due to symptom overlap it remains unclear whether parkinsonism is a late onset manifestation of WD versus idiopathic, however, thanks to confirmation of his diagnoses his medical treatment was optimized for symptom improvement.

« Back to 2024 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/a-case-of-concurrent-wilson-disease-and-parkinson-disease/